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SCN1A c.3955_3956delinsCA ;(p.R1319Q)
Variant ID: 2-166866275-CT-TG
NM_001165963.1(
SCN1A
):c.3955_3956delinsCA;(p.R1319Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: Nav1.1: R1319Q
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
The Journal Of Physiology
Meisler, Miriam H MH; O'Brien, Janelle E JE; Sharkey, Lisa M LM
Publication Date: 2010-06-01
Variant appearance in text: SMEI: R1319Q
PubMed Link:
20351042
Variant Present in the following documents:
Main text
View BVdb publication page